- Chromosome 6 (human)
This article is about a chromosome. For the novel of the same name, see Chromosome 6 (novel) .
Chromosome 6 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 6 spans more than 170 million base pairs (the building material of DNA) and represents between 5.5 and 6% of the total DNA in cells. It contains the Major Histocompatibility Complex, which contains over 100 genes related to the immune response, and plays a vital role in organ transplantation.
Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 6 likely contains between 1,100 and 1,600 genes.
The following are some of the genes located on chromosome 6:
- BCKDHB: branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease)
- CNR1: cannabinoid 1 receptor
- COL11A2: collagen, type XI, alpha 2
- CYP21A2: cytochrome P450, family 21, subfamily A, polypeptide 2
- DSP: Desmoplakin gene linked to cardiomyopathy
- EYA4: eyes absent homolog 4 (Drosophila)
- HFE: hemochromatosis
- HLA-A, HLA-B, HLA-C: major histocompatibility complex (MHC), class I, A, B, and C loci.
- HLA-DQA1 and HLA-DQB1 form HLA-DQ heterodimer MHC class II, DQ: Celiac1, IDDM
- HLA-DRA, HLA-DRB1, HLA-DRB3, HLA-DRB4, HLA-DRB5 forms HLA-DR, heterodimer MHC class II, DR
- HLA-DPA1 and HLA-DPB1 forms HLA-DR, MHC class II, DP
- MUT: methylmalonyl Coenzyme A mutase
- MYO6: myosin VI
- PARK2: Parkinson disease (autosomal recessive, juvenile) 2, parkin
- PKHD1: polycystic kidney and hepatic disease 1 (autosomal recessive)
- TNXB: tenascin XB
- VEGF: vascular endothelial growth factor A (angiogenic growth factor)
- IGF2R: insulin-like growth factor 2 receptor
- HLA-Cw*0602: gene variation related to psoriasis
- PLG: plasminogen (6q26)
Diseases & disorders
The following diseases are some of those related to genes on chromosome 6:
- ankylosing spondylitis, HLA-B
- collagenopathy, types II and XI
- Coeliac disease, HLA-DQA1 & DQB1
- Ehlers-Danlos syndrome, classical, hypermobility, and Tenascin-X types
- Hashimoto's thyroiditis
- Hemochromatosis type 1
- 21-hydroxylase deficiency
- maple syrup urine disease
- methylmalonic acidemia
- Autosomal nonsyndromic deafness
- otospondylomegaepiphyseal dysplasia
- Parkinson disease
- polycystic kidney disease
- porphyria cutanea tarda
- Rheumatoid arthritis, HLA-DR
- Stickler syndrome, COL11A2
- Systemic lupus erythematosus
- Diabetes mellitus type 1, HLA-DR, DQA1 & DQB1
- X-linked sideroblastic anemia
- ^ Matsuda, L A, S J Lolait, M J Brownstein, A C Young, and T I Bonner. "Structure of a cannabinoid receptor and functional expression of the cloned cDNA." Nature, 1990: 346:561-564.
- Some text in this article was taken from http://ghr.nlm.nih.gov/chromosome=6 (public domain)
- Gilbert F (2002). "Chromosome 6". Genet Test 6 (4): 341–58. doi:10.1089/10906570260471912. PMID 12537662.
- Mungall AJ et alii (2003). "The DNA sequence and analysis of human chromosome 6". Nature 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404.
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